Detalhe da pesquisa
1.
New COL6A6 variant detected by whole-exome sequencing is linked to break points in intron 4 and 3'-UTR, deleting exon 5 of RHO, and causing adRP.
Mol Vis
; 21: 857-70, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26321861
2.
Next-generation sequencing-based gene panel tests for the detection of rare variants and hypomorphic alleles associated with primary open-angle glaucoma.
PLoS One
; 19(1): e0282133, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38241218
3.
Delineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.
Hum Mutat
; 34(3): 498-505, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23255084
4.
Detection of novel mutations that cause autosomal dominant retinitis pigmentosa in candidate genes by long-range PCR amplification and next-generation sequencing.
Mol Vis
; 19: 654-64, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23559859
5.
Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population.
Mol Vis
; 19: 1707-22, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23922489
6.
Clinical pharmacogenomic testing of KRAS, BRAF and EGFR mutations by high resolution melting analysis and ultra-deep pyrosequencing.
BMC Cancer
; 11: 406, 2011 Sep 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-21943394
7.
Transcriptional expression of cis-acting and trans-acting splicing mutations cause autosomal dominant retinitis pigmentosa.
Hum Mutat
; 29(6): 869-78, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18412284
8.
Night blindness and hearing loss associated with choroideremia.
Clin Exp Optom
; : 1-4, 2023 Jun 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37349105
9.
Novel LMX1B mutation in familial nail-patella syndrome with variable expression of open angle glaucoma.
Mol Vis
; 13: 639-48, 2007 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-17515884
10.
High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population.
Mol Vis
; 13: 1031-7, 2007 Jun 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-17653047
11.
Phenotypic Description of the Spanish Multicentre Genetic Glaucoma Group Cohort.
J Ophthalmol
; 2017: 1907454, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29082038
12.
Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population.
BMC Med Genet
; 7: 35, 2006 Apr 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-16597330
13.
Sequence variations in the retinal fascin FSCN2 gene in a Spanish population with autosomal dominant retinitis pigmentosa or macular degeneration.
Mol Vis
; 11: 922-8, 2005 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-16280978
14.
Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa.
Invest Ophthalmol Vis Sci
; 44(5): 2171-7, 2003 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-12714658
15.
Detection of genomic variations in BRCA1 and BRCA2 genes by long-range PCR and next-generation sequencing.
J Mol Diagn
; 14(3): 286-93, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22426013
16.
Cellular expression and siRNA-mediated interference of rhodopsin cis-acting splicing mutants associated with autosomal dominant retinitis pigmentosa.
Invest Ophthalmol Vis Sci
; 52(6): 3723-9, 2011 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21357407
17.
Novel c-KIT germline mutation in a family with gastrointestinal stromal tumors and cutaneous hyperpigmentation.
Am J Med Genet A
; 132A(4): 361-4, 2005 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-15742474